title: Mendelian genetics of male infertility.
abstract: Infertility is defined as the inability of a couple to conceive despite trying for a year, and it affects approximately 15% of the reproductive-age population. It is considered a genetically lethal factor, as the family lineage stops at that individual with no progeny produced. A genetic defect associated with an infertile individual cannot be transmitted to the offspring, ensuring the maintenance of reproductive fitness of the species. However, with the advent of assisted reproductive techniques (ART), we are now able to overcome sterility and bypass nature's protective mechanisms that developed through evolution to prevent fertilization by defective or deficient sperm.
authors.affiliation: Scott Department of Urology, Baylor College of Medicine, Houston, TX, USA.
authors.forename: Kathleen
authors.initials: K
authors.lastname: Hwang
authors.forename: Alexander N
authors.initials: AN
authors.lastname: Yatsenko
authors.forename: Carolina J
authors.initials: CJ
authors.lastname: Jorgez
authors.forename: Sarmistha
authors.initials: S
authors.lastname: Mukherjee
authors.forename: Roopa Lata
authors.initials: RL
authors.lastname: Nalam
authors.forename: Martin M
authors.initials: MM
authors.lastname: Matzuk
authors.forename: Dolores J
authors.initials: DJ
authors.lastname: Lamb
mesh_terms: D000818:Animals; D006801:Humans; D007248:Infertility, Male / Q000235:genetics* / Q000473:pathology / Q000628:therapy*; D008297:Male; D057182:Mendelian Randomization Analysis / Q000379:methods* / Q000639:trends; D027724:Reproductive Techniques, Assisted / Q000639:trends; D013091:Spermatogenesis / Q000502:physiology